Ectodermal dysplasia with classical clinical presentation: A rare case report

Abstract

Background: Ectodermal dysplasia is a syndrome consisting of heterogeneous group of hereditary malformations which have similar findings and are inherited genetically. These disorders affect the ectodermal derived tissues (hair, nails, teeth, skin and sweat glands) and lead to development of two or more tissue anomalies with heterogeneous characteristics. Case History: We report a rare case of 16 year old male presenting to us with complaints of decreased sweating, itching all over skin when exposed to sun, hypodonti, madarosis and sparse scalp hair. Thorough examination revealed classical syndromic anamolies. Skin biopsy revealed dyskeratosis and acantholysis with reduced skin adenaxae. Conclusion: Ectodermal dysplasia is a heterogeneous group of hereditary malformations and irregularities which have similar findings. Ectodermal dysplasia not only creates tissue malformations but, the quality of life of patients is also affected.